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Phosphoenolpyruvate carboxykinase deficiency

Synonym(s) PEPCK deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
or Mitochondrial inheritance
Age of onset Infancy
  • E74.4
  • C0268194
  • C536654
MedDRA -


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay.

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